Name

NPHP1 Gene

nephronophthisis 1 (juvenile)

This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

nphp1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nphp1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

NPHP1 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for NPHP1 from the Pathway Commons Protein-Protein Interactions dataset.